Disease #00470 (HPS3 (Hermansky-Pudlak syndrome, type 3 (HPS-3)), OMIM:614072)

Official abbreviation HPS3
Name Hermansky-Pudlak syndrome, type 3 (HPS-3)
OMIM ID 614072
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HPS3
Associated tissues -
Disease features -
Remarks -
Date created 2014-07-23 09:20:14 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00081096 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - HPS3 Hermansky-Pudlak syndrome 3 (OMIM:614072) HPS3 HPS3 1 1 Daniel Trujillano
00401564 FamPatXY2 PubMed: Joel 2010 3-generation family, affected gransfather, mother, son M - Belgium - - - - - HPS3 see paper; ... PHEX PHEX 1 3 Johan den Dunnen
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